Term Name: | microcephaly and chorioretinopathy 2 |
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Synonyms: | |
Definition: | A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. |
Ontology: | Human Disease [DOID:0080106] ( DOID:0080106 ) |